Multiple Myeloma (MM) is an orphan disorder of end stage plasma cells with acquired genetic abnormalities of clinical importance not captured by conventional cytogenetic analysis because of the low proliferation of malignant plasma cells. Thus, interphase Fluorescence In Situ Hybridization (FISH), performed on sorted plasma cells detected abnormalities independently of a proliferative and infiltrative index. The purpose of this study was to explore, for the first time in our Medical Genetics department the molecular genetics features in a Tunisian patient with multiple myeloma. A 35-year-old Tunisian man, followed-up for MM since two years and received VTD chemotherapy protocol (bortézomib, thalidomide et dexaméthasone). Actually, as part of evaluation of his disease, and in the presence of infectious syndrome, the MM’s relapse is suspected. Magnetic cell separation of PCs was performed using the Whole Blood CD138 MicroBeads, Whole Blood Column Kit, and the QuadroMACS Separation Unit (Miltenyi Biotec) according to the manufacturer's protocol. Slides were pretreated according to the manufacture's protocol. The FISH probes used in this study included IGH/FGFR3(4p16/ 14q32; DC.DF)/vysis, TP53/CEP 17(17p11.1-q11.1/ 17p13.1) FISH probe, Vysis.

Revealed the presence of three signals of IGH in 75% of nuclei and one signal of TP53 in 96% of nuclei. These results demonstrated the deletion of the short arm of chromosome 17 (del(17p)) and the absence of t(4;14). However, the presence of three signals of IGH indicated either the IGH amplification or the IGH rearrangement involving other partner chromosomes. These results were consistent with patient’s relapse. The t(4;14) and del (17p) are high-risk markers associated with adverse prognosis. Patients with these genomic aberrations should be treated with targeted therapy. The detection of the 1q21 ‘gain could be considered in further studies because it is the most frequent structural abnormality, observed in 35%–40% of the patients with MM which is an independent poor prognostic factor.